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Saturday, 29 October 2016

Genetic Genealogy Ireland 2016

I returned home on Tuesday after an enjoyable few days in Ireland attending the Back To Our Past Show. This event is held at the RDS in Dublin, and is the highlight of the genealogical year in Ireland. An over fifties show takes place at the same time, and this year there was also a coin collectors fair being held at the RDS. Around 20,000 people visit the RDS over the course of the three days to attend these shows, and visitors can move freely between the three different events. This year the halls seemed to be busier than ever and I imagine that attendance will be up on previous years.

Genetic Genealogy Ireland, sponsored by Family Tree DNA, is now in its fourth year and has become an integral part of Back To Our Past. My friend and fellow ISOGG member Maurice Gleeson is the inspiration behind Genetic Genealogy Ireland. He not only arranges the lecture schedule but also chairs all the sessions with boundless energy and good humour. Once again Maurice provided a fabulous programme for us with a good mix of speakers from both academia and the world of genetic genealogy. I was invited to do a talk on the future of autosomal DNA testing which was great fun to put together. Most of the talks will eventually be made available on the Genetic Genealogy Ireland YouTube channel, but I will just mention briefly some of my personal highlights. I will update this blog post with links to the recordings as and when they become available.

René Gapert and Jim Barry gave a fascinating presentation about the pioneering Earls of Barrymore DNA Project. This is the first privately sponsored project to extract ancient DNA from ancestral remains. Jim Barry, who runs the Barry DNA Project at Family Tree DNA, is the driving force behind this project and he joined us by Skype from his home in Reston, Virginia, to give his part of the presentation. There are currently no protocols for digging up ancestors and testing their remains so this project is exploring uncharted territory. Genealogical research is not of interest to population geneticists, and academics will only get involved in such projects if there is a historical incentive or if the research will demonstrate a new methodology. Jim was unable to get any of the commercial and academic labs (eg University College Dublin) to collaborate, and he had great difficulty in finding a lab that would do the testing. The testing was eventually done at Family Tree DNA but this was only possible because Fiona Monosmith, a technician at FTDNA, took a particular interest in the case. She has since left the company.

René Gapert is a forensic anthropologist. He explained how it was necessary to get the relevant licences from the appropriate authorities to go ahead with the work. In Ireland the coroner determines whether remains are forensic or historical. Coroners are not interested in historical remains. Ancient remains have to be reported to the National Museum in Ireland. There has to be a good reason for testing human remains. Genealogical curiosity is not a good enough reason for testing. The Barrymore case was judged to be of historical significance because of the importance of the Anglo-Irish Barry family in Irish history. It also helped that there was a well established Y-DNA project with many samples available for comparison purposes.

A limited number of Y-STRs were obtained from the samples but the results were somewhat inconclusive. DNA samples were taken from the thigh bones, but ancient DNA has advanced since the testing was done and it is has now been established that the petrous bone– the bones in the skull which protect the inner ear – are the best source of endogenous DNA. It's likely that further DNA testing will be done in the future, and it is also hoped to get a facial reconstruction done by researchers at Dundee University, who specialise in these techniques. The eventual aim is to publish the results in a good-quality peer-reviewed journal.

The Barrymore Project sparked some interesting discussions over the course of the weekend, particularly with regard to the methodology used. Two other speakers, Dan Bradley and Jens Carlsson, explained how DNA is degraded over time and is often reduced to short fragments of around 50 base pairs in length. STRs are repeating motifs of DNA letters and they often cover 150 or more base pairs. This raises questions about the validity of the STR results obtained. Testing on ancient remains is usually done in a specialist ancient DNA lab to avoid problems of contamination with modern DNA, so there are also questions as to whether or not Family Tree DNA were best equipped to do this type of testing. Ancient DNA testing is normally done these days by using next generation sequencing. The old PCR methods have a tendency to amplify contaminating modern DNA. Regardless of the limitations of the methodology used, Jim Barry is to be congratulated for attempting such a pioneering project, and there is much to be learnt from the process which will pave the way for similar projects in the future. A small group of genetic genealogists are hoping to collaborate to try and come up with some best practice guidelines for testing ancestral remains. We hope to seek input from people working in the ancient DNA field. If you think you can help do get in touch.

The Barrymore presentation is now available on the Genetic Genealogy Ireland YouTube channel and you can watch it by clicking on the image below.

Professor Dan Bradley from Trinity College Dublin spoke about “Recent findings in ancient Irish DNA”. This talk summarised some of the recently published ancient DNA research from Ireland, much of which has come from Dan Bradley's own lab, including the landmark paper on Neolithic and Bronze Age migration to Ireland which presented the first ancient genomes from Ireland. We now know that farming comes with people, and it seems that the farmers displaced much of the Neolithic population. Bradley suggested that this might be because they brought diseases with them such as the plague which knocked out the settled populations. Bradley's lab is working on an ancient genome survey of Ireland and this project is well under way. They are sequencing “tens of genomes” but he has no idea at the moment when the results will be published.

Dan Bradley discusses recent findings in Irish ancient DNA

Peter Sjölund, one of the administrators of the Sweden DNA Project at Family Tree DNA and one of the founders of the Swedish Society for Genetic Genealogy, gave an entertaining presentation on “Viking DNA in Ireland” with some wonderful graphics. Around 20,000 people have tested in Sweden, but the focus is mostly on Y-DNA and mtDNA. Sweden is a "paradise for genetic genealogy". Genealogical records are intact for the whole country dating back to the 1680s and there are court records going back to 1535. However, hereditary surnames have only been used in the last 150 years which is why mtDNA is just as important as Y-DNA in Sweden. Peter presented a case study where he had been able to triangulate two matrilines back for 11 generations to the 1650s, and the genealogical research was confirmed with mtDNA testing. Eighty per cent of Swedish men are R1a, I1 and R1b. Swedish R1b men get very few matches. The admins of the Sweden DNA Project collaborate very closely with their fellow project admins in Norway, Finland and Russia. Peter estimates that around 8000 people have tested in Norway, around 9000 people in Finland but just a few hundred in Denmark for reasons which are unknown. A member of the audience joked that a lot of sperm donors come from Denmark!

Peter Sjölund discusses Viking DNA in Ireland

On Saturday morning I attended the first talk in the main genealogy programme which was presented by Mike Mulligan from AncestryDNA and Sheila O’Donnell, who is one of the Ancestry Progenealogists. Sheila gave a very useful overview of the key record sets for Irish research with particular reference to those that are available from Ancestry. In addition to the records on Ancestry many Irish records are freely available online such as the Irish censuses for 1901 and 1911, and the historic birth, marriage and death records on www.irishgenealogy.ie. The Irish Catholic Parish Records are an important source for Irish research. In the 1861 census 78% of the population were Catholic, and this figure had increased to 89% in 1891. The Catholic records are available on both Ancestry and Findmypast. I learned a few interesting facts. There were 67,000 Irish people living in in England in the 1901 census. In the 1855 census of New York one quarter of the people living in Manhattan were born in Ireland.

There was not much time for Mike Mulligan to talk about AncestryDNA, but I picked up a few interesting nuggets. Apparently people from the west of Ireland and those living in rural areas get more matches than those living elsewhere in Ireland, probably because there was lots of emigration to America from the west coast, and Americans are the dominant population in the databases. People from the west coast have an average of 130 fourth cousin matches but people on the east coast have about 70 or so matches. This compares with people from England who have between about 20 and 30 fourth cousin matches. This tallies with my own experience at AncestryDNA, as I currently have 29 fourth cousin matches. (In reality fourth cousin matches can be anywhere between a fourth and a sixth cousin.)

Robert Casey gave an interesting presentation on “Y-SNPs: key to the future”, which will appeal to advanced genetic genealogists. He discussed the problem of convergence whereby two haplotypes change over time and drift close together creating coincidental matches. Robert then went on to discuss a methodology for clustering matches into sub-groups based on SNPs, STRs and surnames. He is currently working with a computer programmer and is hoping to come up with a tool to produce automated charts.

In the discussion afterwards we talked about identifying modal haplotypes for specific subclades. It's particularly helpful for surname project administrators to know the modal haplotype so that they can identify off modal markers that are likely to be informative for their surname clusters. Diana Gale Matthiesen compiled a list of modal haplotypes for various haplogroups but her list has not been updated for some time, though it is still a potentially useful source. It would be good if we could have an updated list of modal haplotypes for all the different haplogroups in the ISOGG Wiki. If anyone is up to the challenge do get in touch.

Robert Casey discusses advances in Y-SNP testing and analysis

Jens Carlsson from University College Dublin gave a fascinating presentation about the “Genetic identification of the 1916 Cork Rebel Thomas Kent”. Thomas Kent was one of the 16 men executed by British forces in the aftermath of the Easter Rising. He was buried in the grounds of what is now Cork Prison but there had always been uncertainty about his identity, which was based purely on circumstantial evidence. This work came about as a result of an archaeology dig at Cork prison during which the putative remains of Thomas Kent were exhumed. The Garda and Forensic Science Ireland contacted University College Dublin and asked for their help with the identification. Thomas Kent has two living nieces and their DNA was used for comparison. Because DNA degrades over time it's generally only possible to retrieve small fragments of ancient DNA ranging in length from 30 to 70 base pairs. The short length of the DNA fragments also means that traditional IBD methods of determining kinship cannot be used. For this project Carlsson’s team developed a brand-new methodology for estimating relatedness using small amounts of genetic data. The methodology was checked by using computer simulations on data from the 1000 Genomes Project. The researchers concluded that there was less than a one in a million chance that they were wrong. The nieces and Thomas Kent were five trillion times more likely to be related than not related. A paper has been submitted for publication and is available in the BioRxiv preprint server. I hope a recording of this presentation will be made available. If so, I highly recommend that you watch it.

Jens Carlsson explains a new methodology that was used to identify the remains of the Easter Rising rebel Thomas Kent

The highlight of the conference for me was a very moving presentation from Diahan Southard on “The marriage of genetics and genealogy: a case study”. Diahan’s mother was adopted from an unmarried mother’s home in Seattle, Washington. Through a combination of genetic matches and genealogical research Diahan's mum was eventually reunited with some of her biological family. The talk raised some interesting ethical issues showing how advances in technology mean that DNA testing can sometimes have unanticipated consequences. Diahan ended the presentation with a short video which reduced some of the audience to tears. This talk was not recorded, but I understand Diahan will be presenting at Rootstech so, if you get a chance, do go and hear her story. (Update: this talk was recorded after all and the recording will be available online for about six months.) Diahan also gave an excellent talk on the basics of autosomal DNA testing. She has a good eye for design and produces some wonderful whizzy slides which were the envy of all the other speakers.

Diahan Southard shared the story of her mother's reunion with her biological family

Maurice Gleeson gave a thought-provoking talk on the use of SNPs and STRs in the Gleeson Project and his attempts to link the results into the Irish annals. Genetic genealogists use the term NPE to describe so called non-paternity events where the surname does not correspond with the transmission of the Y-chromosome. We’ve always thought this term is less than satisfactory, but no one has ever been able to come up with a suitable alternative. The term misattributed paternity is used in cases where the results don’t match as expected. However, most NPEs are not surprises but are well documented illegitimacies, and the family historian knows in advance that his results will not match other people with his surname. Maurice proposed two new alternatives – “breaks in transmission” and “surname switches” – both of which I quite like. Perhaps these new names might one day catch on.

Maurice Gleeson proposed some alternative terminology for NPEs

The final talk of Genetic Genealogy Ireland 2016 was given by Ed Gilbert from the Royal College of Surgeons in Ireland. Ed gave us an update on the Irish DNA Atlas Project and the Irish Travellers Project. Work is ongoing on the Irish DNA Atlas Project so the talk was not recorded, and we weren't allowed to take photographs. I can't say too much about the results that were presented other than that this is a very exciting project. To qualify for the project participants must have eight great-grandparents born with 30 to 50 kilometres of each other. The genealogies are verified by researchers from the Genealogical Society of Ireland. Only one in eight of all applicants are accepted. If the criteria were relaxed they could have over 2000 participants. The team have retained all the contact details so that they can contact all these people in the future if required. The project currently has 230 individuals, and they have genetic data on 194 participants. It has been possible to identify distinct regional clusters within Ireland. The Irish data has been compared with data from the People of the British Isles Project and a preliminary comparison has been done with European data. It is hoped that a paper will be submitted by the end of this year or the beginning of next year when all the analyses have been completed. We are all looking forward to seeing this paper in print.

Unfortunately, because of the terms and conditions agreed when the Irish DNA Atlas Project was set up, the data will not be made available to other researchers. Also, the people who have participated in the project will not have access to their own raw data. However, if you do have four grandparents all born within the same region of Ireland you can participate in another project run by the British company Living DNA. For details see this article in the Irish Post. If you have tested at Family Tree DNA and have four grandparents born within the same region of Ireland you can join Maurice Gleeson's Irish Grandparents Project.

Ed Gilbert also briefly summarised the results of the Irish Travellers Project. Irish travellers represent 6.6% of the Irish population. Fifty individuals participated in the project. They each had a minimum of three grandparents with a traveller surname. Sixty per cent of the participants were female. The analysis was based on autosomal DNA, and they currently do not have any Y-DNA or mtDNA data. Ed Gilbert presented a poster about the Irish Travellers Project at the recent meeting of the American Society of Human Genetics. A paper has been submitted for publication and they are currently dealing with reviewer comments so hopefully the paper will be published in the next few months.

As there were so many exciting talks this year I didn't get much of a chance to look at the various stands at the show but I did manage to escape briefly and take a few photographs. DNA testing was very much at the forefront this year. Family Tree DNA had the market in Ireland to themselves until 2015 when AncestryDNA launched their autosomal test in Ireland and Britain. This year Family Tree DNA and AncestryDNA were joined by a third company, Living DNA, who are selling an interesting new genetic ancestry test that offers regional breakdowns. The presence of three DNA companies at this event is a sign that DNA testing is now starting to go mainstream. The DNA stands all seemed to be very crowded and I'm sure a lot of kits were sold.

Crowds gather on the Family Tree DNA stand

The AncestryDNA stand

The Living DNA stand

The day after the conference had finished we met up for the ISOGG Day Out, organised by Gerard Corcoran, ISOGG's regional rep for Ireland. Gerard always pulls out all the stops for us but I will write about this in a future blog post.

14 comments:

Thanks very much for the report. We appreciate your thoughtful comments on the Barrymore project. Despite the challenges, we believe that we obtained enough information to formulate a research hypothesis for further evaluation. If you or others have any thoughts about advanced labs or specific researchers who might be interested in collaboration, please contact me at jbarry6899@me.com.

Great post, Debbie. A PDF of René's slides are available on ResearchGate and Academia.edu ... https://www.researchgate.net/publication/309284215_Testing_Ancestral_Remains_The_Barrymore_Project_-_Forensic_AnthropologyAndhttps://www.academia.edu/29268450/Testing_Ancestral_Remains_The_Barrymore_Project_-_Forensic_Anthropology

I don't know if any of the labs would be interested in doing next generation sequencing for a genealogical enquiry but it might be worth a try. In the long run I think there is scope for someone to set up a commercial lab for ancient DNA and forensic DNA testing.

As I mentioned in the presentation we contacted more than two dozen labs and found only two commercial labs, and no academic labs, willing to participate. I agree that there may be a potential for a dedicated lab in the future, but in the near term such projects are probably not sufficiently profitable to justify the investment in specialized equipment and training. One possibility would be to try to interest the Irish government, which is taking an increasingly active role in genealogical outreach. To do that, we would need a "point person" in Ireland to research and contact, in person, the relevant entities. Another option would be to contact National Geographic to see if they would be willing to expand the Genographic Project in this direction.

In the meantime, we are awaiting the results of a second attempt at extraction by a European lab. Still hopeful!

It's difficult because this type of research is outside the remit of academic projects, as Dan Bradley explained to us. I know another group who are trying to do something similar and are running into the same problems you've encountered.

Gerard Corcoran is probably the best to approach in Ireland to ask about getting government backing. Gerard is the ISOGG Regional Rep for Ireland.

I believe the Genographic Project has published some papers involving ancient DNA but they are more interested in deep ancestry than a genealogical time frame.

Despite the challenges, if we can get results for one or two SNPs then we would have a confident result. In the Barry project we have a cluster of more than 30 men in R1b-Z49. Eight of them have done BigY tests and we have identified private SNPs exclusive to that group and estimate a common ancestor about the 12th century. They appear to be related to the original Anglo-Flemish family, though there is no direct documentation. Getting any result for Barrymore1 on the chain Z49>S8183>Y11178 etc. would essentially confirm a relationshio between him and this group, confirming the hypothesis about his identity. So really we don't need NGS, just Sanger sequencing on a few locations. Surely this should be possible and if anyone has ideas about resources please let us know.

It all depends on how much of the DNA has actually survived. If the section containing the SNP of interest is not there then there's not a lot that can be done. However, in the case of Richard III they managed to get both STRs and SNPs. I don't know if there are some STRs used in forensics that are shorter and are therefore easier to pick up in ancient DNA. Have you read the preprint on the Thomas Kent case? That has some interesting background on how this type of DNA testing is now done, and there are also some useful references.

Great post, Debbie. Re NPE, I really like Emily Aulicino's version, which is "not (the) parent expected." This describes the situation perfectly and is not ambiguous; everyone will understand it. I was very interested in the Barry presentation, as my husband is a Berry descendant (NPE) from the U.K., and he also has DNA described as Irish - a complete surprise to a Yorkshire tyke. The one thing I did learn from the slides was, whether he is related or not, he has the Barry NOSE! Kathleen Cooper

Hi Kathleen, Thanks for your kind words. I also like Emily's term "Not the parent expected" but again that only applies to a limited number of scenarios. For most NPEs it's not that the father's name is unexpected it's just that we already know in advance that the surname won't match. This is because we have a birth certificate where there is a blank where the father's name should appear or where a child has been baptised but is given the surname of the mother because the mother was not married. On rare occasions the clerk does note that a particular person was reputed to be the father. The false paternity rate is very low but the illegitimacy rate as been very high, particularly at certain times or in some locations.

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The material on these pages is copyright Debbie Kennett or reproduced with permission from other copyright owners. It may be downloaded and printed for personal reference, but not otherwise copied, altered in any way or transmitted to others (unless explicitly stated otherwise) without the written permission of Debbie Kennett.